Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001894765 | SCV002129463 | uncertain significance | MHC class I deficiency | 2021-05-31 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with TAP2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with glutamine at codon 171 of the TAP2 protein (p.His171Gln). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and glutamine. |
| Ambry Genetics | RCV004681275 | SCV005167604 | uncertain significance | Inborn genetic diseases | 2024-04-08 | criteria provided, single submitter | clinical testing | The c.513C>G (p.H171Q) alteration is located in exon 3 (coding exon 2) of the TAP2 gene. This alteration results from a C to G substitution at nucleotide position 513, causing the histidine (H) at amino acid position 171 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |